Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia
Gehlhaar A, Shouval D, Santiago E, Ling G, McCourt B, Werner L, Yerushalmi B, Konnikova L. Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia. Human Immunology 2025, 86: 111268. PMID: 40037121, DOI: 10.1016/j.humimm.2025.111268.Peer-Reviewed Original ResearchGlycogen storage disease type 1bGlycogen storage disease type 1b patientsImpaired immune cell traffickingClassic treatment strategiesUpregulation of CXCR3Effector memory phenotypeT cell populationsNatural killer cellsSystems immunology approachNon-classical monocytesImmune cell traffickingGlycogen storage disease 1bImmune defectsMemory phenotypeMultiple T cell populationsImmune landscapeRecurrent infectionsKiller cellsImmune dysregulationImmune impairmentImmunophenotypic characterizationSLC37A4 geneControl subjectsTreatment strategiesNeutrophil numbers
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